Papillon Lefèvre Syndrome is a rare genetic disorder impacting about one in a million individuals worldwide. Its hallmark symptoms include palmoplantar keratodoma and severe gingivitis.

0:45 - Biological Basis of Disease
7:45 - Symptoms & Manifestations
10:55 - Diagnosis
11:55 - Treatment & Disease Management Options

Special thank you to ChatGPT and OpenAI for logo design, Buzzsprout for podcast hosting, and to Odd Prospect for providing intro and outro music.

The sources used in this episode include:
Sreeramulu, B., Shyam, N.D., Aja, P., and Suman, P. (2015) “Papillon-Lefèvre syndrome: clinical presentation and management options.” Clinical, Cosmetic and Investigational Dentistry 2015:7; 75-81. From https://doi.org/10.2147/CCIDE.S76080

Korkmaz, B., Seren, S., Kara, E., and Moss, C. (2022). “The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C related lysosomal disease.” Rare Disease and Orphan Drugs Journal. DOI: 10.20517/rdodj.2022.26

National Organization for Rare Diseases. (2019). “Papillon Lefèvre Syndrome.” National Organization for Rare Diseases. From https://rarediseases.org/rare-diseases/papillon-lefevre-syndrome/

Shah, A. F., Tangade, P., and Agarwal, S. (2014) “Papillon-Lefevre syndrome: Reporting consanguinity as a risk factor. Saudi Dental Journal: 19;26(3): 126-131. From 10.1016/j.sdentj.2014.02.004

Posteraro, A. F. (1992). “Papillon-Lefèvre syndrome.” J Ala Dent Assoc; 76(3): 16-19. From https://pubmed.ncbi.nlm.nih.gov/1452914/

AlBarrak, Z. M., Alqarni, A. S., Chalisserry, E. P. and Anil, S. (2016). “Papillon-Lefèvre syndrome: a series of five cases among siblings.” Journal of Medical Case Reports; 10: 260. From https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-016-1051-z

Papillon Lefèvre Syndrome is a rare genetic disorder impacting about one in a million individuals worldwide. Its hallmark symptoms include palmoplantar keratodoma and severe gingivitis.

Special thank you to ChatGPT and OpenAI for logo design, busssprout for podcast hosting, and to Odd Prospect for providing intro and outro music.

The sources used in this episode include:
Sreeramulu, B., Shyam, N.D., Aja, P., and Suman, P. (2015) “Papillon-Lefèvre syndrome: clinical presentation and management options.” Clinical, Cosmetic and Investigational Dentistry 2015:7; 75-81. From https://doi.org/10.2147/CCIDE.S76080

Korkmaz, B., Seren, S., Kara, E., and Moss, C. (2022). “The discovery of the Papillon-Lefèvre syndrome, a rare cathepsin C related lysosomal disease.” Rare Disease and Orphan Drugs Journal. DOI: 10.20517/rdodj.2022.26

National Organization for Rare Diseases. (2019). “Papillon Lefèvre Syndrome.” National Organization for Rare Diseases. From https://rarediseases.org/rare-diseases/papillon-lefevre-syndrome/

Shah, A. F., Tangade, P., and Agarwal, S. (2014) “Papillon-Lefevre syndrome: Reporting consanguinity as a risk factor. Saudi Dental Journal: 19;26(3): 126-131. From 10.1016/j.sdentj.2014.02.004

Posteraro, A. F. (1992). “Papillon-Lefèvre syndrome.” J Ala Dent Assoc; 76(3): 16-19. From https://pubmed.ncbi.nlm.nih.gov/1452914/

AlBarrak, Z. M., Alqarni, A. S., Chalisserry, E. P. and Anil, S. (2016). “Papillon-Lefèvre syndrome: a series of five cases among siblings.” Journal of Medical Case Reports; 10: 260. From https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-016-1051-z

AlBarrak, Z. M., Alqarni, A. S., Chalisserry, E. P. and Anil, S. (2016). “Papillon-Lefèvre syndrome: a series of five cases among siblings.” Journal of Medical Case Reports; 10: 260. From https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-016-1051-z